Freezing of Gait as the Initial Manifestation of Neuronal Ceroid Lipofuscinosis Type 6: a Case Report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s42399-022-01368-x.pdf
Reference23 articles.
1. Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet. 2002;70:537–42.
2. Gao H, Boustany R-MN, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002;70:324–35.
3. Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, et al. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience. Orphanet J Rare Dis. 2022;17(1):13 (BioMed Central Ltd).
4. Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM. Therapeutic landscape for Batten disease: current treatments and future prospects. Nat Rev Neurol. 2019;15:161–78 (Nature Publishing Group).
5. Simonati A, Williams RE. Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview. Front Neurol. 2022;13:811686 (Frontiers Media S.A.).
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